Rivelis C F, Coco R, Bergada C
J Genet Hum. 1978 Mar;26(1):69-83.
The authors have studied the gonadal histogenesis and the sexual chromosome influence on the gonads of 17 patients with the following complements : 45,X/46,XXqi (1 case); 45,X (4 cases); 45,X/46,XXP--(1 cases); 45,Xq-- (1 case); 45,X/46,XX (8 cases); 45,X/46,XX/46,XXqi (1case); and 45,X/46,XXqi/47,XXqiXqi (1 case). The presence of sexual differentiation structures was investigated : coelomic epithelium, stromal characteristics, follicles sexual cords, medullary tubules, rete ovarii, hilar cells, mesonephric remnants and coelomic epithelium inclusions. All gonads were constituted by rudimentary ovarian stroma with different states of hyalinization. Primordial follicles were noted in two patients with respectively 45,X/46,XX and 45,X/46,XXqi/47,XXqiXqi karyotypes, and a cystic follicle was present in one patient 45,X/46,XXp--. Sexual cords were seen in 6 patients and medullary tubules in 9. Different amounts of hilar cells were found as well. The authors conclude that in Turner's syndrome there exists an ovarian dysgenesis which is probably caused by early involution before reaching the maturation, conditioned by the genetic incapacity of the oogonia to complete the meiotic prophase.
作者研究了17例患者的性腺组织发生以及性染色体对性腺的影响,这些患者具有以下染色体组成:45,X/46,XXqi(1例);45,X(4例);45,X/46,XXP--(1例);45,Xq--(1例);45,X/46,XX(8例);45,X/46,XX/46,XXqi(1例);以及45,X/46,XXqi/47,XXqiXqi(1例)。研究了性分化结构的存在情况:体腔上皮、基质特征、卵泡性索、髓质小管、卵巢网、门细胞、中肾残余物和体腔上皮包涵体。所有性腺均由不同程度玻璃样变的原始卵巢基质构成。在两名分别具有45,X/46,XX和45,X/46,XXqi/47,XXqiXqi核型的患者中发现了原始卵泡,在一名45,X/46,XXp--患者中发现了一个囊性卵泡。6例患者可见性索,9例患者可见髓质小管。也发现了不同数量的门细胞。作者得出结论,在特纳综合征中存在卵巢发育不全,这可能是由于在达到成熟之前早期退化所致,其条件是卵原细胞的遗传能力无法完成减数分裂前期。